Canonical Allele Identifier: CA2405377

Gene: GMPPB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49721880G>A , CM000665.2:g.49721880G>A	GRCh38
NC_000003.11:g.49759313G>A , CM000665.1:g.49759313G>A	GRCh37
NC_000003.10:g.49734317G>A	NCBI36
NG_011603.1:g.37324G>A
NG_033731.1:g.7095C>T
NG_033731.2:g.7095C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_021971.4:c.955C>T MANE Select	NP_068806.2:p.Arg319Cys
ENST00000308388.7:c.955C>T MANE Select	ENSP00000311130.6:p.Arg319Cys
NM_013334.3:c.1036C>T	NP_037466.2:p.Arg346Cys
NM_013334.4:c.1036C>T	NP_037466.3:p.Arg346Cys
NM_021971.2:c.955C>T	NP_068806.1:p.Arg319Cys
ENST00000308375.10:c.1036C>T	ENSP00000309092.6:p.Arg346Cys
ENST00000308388.6:c.955C>T	ENSP00000311130.6:p.Arg319Cys
ENST00000480687.5:c.955C>T	ENSP00000418565.1:p.Arg319Cys
ENST00000481959.2:n.1528C>T
ENST00000495627.2:c.1063C>T	ENSP00000503768.1:p.Arg355Cys
ENST00000677393.1:c.740C>T	ENSP00000503880.1:p.Thr247Met
ENST00000678010.1:c.589C>T	ENSP00000503176.1:p.Arg197Cys
ENST00000678208.1:n.1389C>T
ENST00000678853.1:c.*246C>T	ENSP00000504692.1:n.*246C>T